Mitochondrial Abnormalities of Liver in Primary Ornithine Transcarbamylase Deficiency

Abstract

Summary: Deficiency of hepatic ornithine transcarbamylase (EC 2.1.3.3) activity in a 17-month-old female patient is described. Enzyme activity was 11% of the mean control value. Electron microscopic examination of the liver specimen, taken by percutaneous needle biopsy, revealed striking abnormalities of the mitochondria: budlike projections, sausage-link appearance, elongation with short cristae, or the presence of parallel arrays of tubules. These abnormalities do not resemble those seen in Reye's syndrome. Speculation: Abnormalities of the liver mitochondria in patients with ornithine transcarbamylase deficiency have not previously been observed. The specificity of these abnormalities requires study of further cases.